{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Saracino D"],"funding":["Programme Hospitalier de Recherche Clinique","Agence Nationale de la Recherche","Fondation Vaincre Alzheimer"],"pagination":["1278-1288"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8606463"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["92(12)"],"pubmed_abstract":["<h4>Objective</h4>Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in <i>C9orf72</i> and <i>GRN</i> cohorts from presymptomatic to clinical stages.<h4>Methods</h4>We analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of <i>C9orf72</i> and <i>GRN</i> patients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical-genetic variables, and longitudinal NfL changes, were investigated using gen"],"journal":["Journal of neurology, neurosurgery, and psychiatry"],"pubmed_title":["Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications."],"pmcid":["PMC8606463"],"funding_grant_id":["Predict-PGRN","“Investissements d’avenir” ANR-11-INBS-0011","FTLD-exome","FR-17035","ANR-PRTS PREV-DEMALS"],"pubmed_authors":["Lacomblez L","Hannequin D","Ceccaldi M","Lautrette G","Boutoleau-Bretonniere C","Bissery A","Kuchinski G","Golfier V","Le Ber I","Funkiewiez A","Masmanian M","Chupin M","French Research Network on FTD/FTD-ALS","Bertin H","Couratier P","Rinaldi D","Azuar C","Causse-Lemercier V","Payoux P","Auffray-Calvier E","Ber IL","Auriacombe S","Jornea L","Wallon D","Chastan M","Chen Y","Dubois B","Bombois S","Dorgham K","Didic M","Migliaccio R","Brice A","Belliard S","Formaglio M","Thauvin-Robinet C","Delmaire C","Habert MO","Clot F","Berry I","Bertrand A","Rametti-Lacroux A","Gerardin E","Monteil J","Bardinet E","Levy R","Forlani S","Martin-Hardy P","Pariente J","Colliot O","Sellal F","Saracino D","Toullec BL","Pallardy A","Rollin-Sillaire A","Houot M","Sauvee M","Pasquier F","Kas A","Boncoeur MP","Vercelletto M","Blanc F","Benchetrit E","Camuzat A","Thomas-Anterion C","Petyt G","Girard N","Sayah S","PREV-DEMALS and Predict-PGRN study groups","Michel BF","Mackowiak MA","Duyckaerts C","Martinaud O","Oya AH","Etcharry-Bouyx F","Delbeuck X","Deramecourt V","Guedj E"],"additional_accession":[]},"is_claimable":false,"name":"Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications.","description":"<h4>Objective</h4>Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in <i>C9orf72</i> and <i>GRN</i> cohorts from presymptomatic to clinical stages.<h4>Methods</h4>We analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of <i>C9orf72</i> and <i>GRN</i> patients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical-genetic variables, and longitudinal NfL changes, were investigated using gen","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2026-06-16T03:12:00.988Z","creation":"2026-06-16T03:07:05.146Z"},"accession":"S-EPMC8606463","cross_references":{"pubmed":["34349004"],"doi":["10.1136/jnnp-2021-326914"]}}